RESUMEN
El área programática del Hospital Parmenio Piñero (AP-HGAPP) se localiza en el sur de la ciudad, e incluye parte de las comunas 7, 8, 9, 10, 6 y 4. Según datos provenientes del Censo 20105, se registraron 324.179 personas viviendo en este territorio, con un porcentaje de población con Necesidades Básicas Insatisfechas de 10,4% (superior al valor promedio de CABA de 7%). Se presenta en este informe un análisis de situación de tuberculosis, tomando como eje el territorio y la población a cargo del hospital y sus centros de salud y acción comunitaria. (AU)
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Tuberculosis/clasificación , Tuberculosis/complicaciones , Tuberculosis/etnología , Tuberculosis/mortalidad , Tuberculosis/prevención & control , Tuberculosis/transmisión , Tuberculosis/epidemiología , Áreas de Influencia de Salud/estadística & datos numéricos , Estudios Epidemiológicos , Hospitales Municipales/estadística & datos numéricosRESUMEN
La tuberculosis (TBC) es una enfermedad infecciosa que compromete habitualmente el sistema respiratorio, y con menor frecuencia otros aparatos. A nivel mundial representa la segunda causa infecciosa de muerte después del HIV, y en Argentina se notificaron 429 muertes en 2015. La ciudad de Buenos Aires presenta la tercera tasa de notificación de TBC más alta del país, luego de Salta y Jujuy, y dentro de CABA las comunas con mayor incidencia de TBC son la 7 y la 8, aportando una porción significativa del territorio total del área programática del Hospital Piñero. El grupo colaborativo de tuberculosis del Hospital Piñero y su área programática es un colectivo multidisciplinario de profesionales que se desempeñan en el hospital o en centros de salud, compuesto por médicos, enfermeros, trabajadoras sociales, bioquímicos, farmacéuticos y psicólogos. El trabajo en red posibilita compartir objetivos comunes, intercambiar recursos, información y experiencias de trabajo, con la finalidad de articular el proceso de atención y cuidado de las personas con tuberculosis y sus contactos familiares e institucionales. Se analizaron casos de tuberculosis (todas las localizaciones, pulmonar, extrapulmonar o ambas), confirmada bacteriológicamente o no, que iniciaron tratamiento en el Hospital Piñero y/o CeSAC del AP, o aquellos con residencia en el AP del Hospital Piñero que fueron asistidos en otras instituciones. Las fuentes de información utilizadas fueron el SNVS (Módulo C2 para datos 2015-2016; Módulo TBC para datos 2017). Para la realización de los mapas se utilizó además datos suministrados por la Gerencia Operativa de Epidemiología, que corresponden a individuos residentes en el AP del Piñero que fueron asistidos en otras instituciones. (AU)
Asunto(s)
Humanos , Masculino , Femenino , Lactante , Preescolar , Niño , Adolescente , Adulto , Persona de Mediana Edad , Tuberculosis/clasificación , Tuberculosis/prevención & control , Tuberculosis/transmisión , Tuberculosis/epidemiología , Áreas de Influencia de Salud/estadística & datos numéricos , Centros de Salud , Áreas de Pobreza , Estudios Epidemiológicos , Notificación de Enfermedades , Hospitales Municipales/estadística & datos numéricosRESUMEN
Migraine is a disabling neurological disease that affects 14.7 % of Europeans. Studies evaluating the economic impact of migraine are complex to conduct adequately and with time become outdated as healthcare systems evolve. This study sought to quantify and compare direct medical costs of chronic migraine (CM) and episodic migraine (EM) in five European countries. Cross-sectional data collected via a web-based survey were screened for migraine and classified as CM (≥15 headache days/month) or EM (<15 headache days/month), and included sociodemographics, resource use data and medication use. Unit cost data, gathered using publicly available sources, were analyzed for each type of service, stratified by migraine status. Univariate and multivariate log-normal regression models were used to examine the relationship between various factors and their impact on total healthcare costs. This economic analysis included data from respondents with migraine in the UK, France, Germany, Italy, and Spain. CM participants had higher level of disability and more prevalent psychiatric disorders compared to EM. CM participants had more provider visits, emergency department/hospital visits, and diagnostic tests; the medical costs were three times higher for CM than EM. Per patient annual costs were highest in the UK and Spain and lower in France and Germany. CM was associated with higher medical resource use and total costs compared to EM in all study countries, suggesting that treatments that reduce headache frequency could decrease the clinical and economic burden of migraine in Europe. Comparing patterns of care and outcomes among countries may facilitate the development of more cost-effective care, and bring greater recognition to patients affected by migraine.
Asunto(s)
Costos de la Atención en Salud , Trastornos Migrañosos/economía , Trastornos Migrañosos/epidemiología , Trastornos Migrañosos/terapia , Estudios Transversales , Personas con Discapacidad , Europa (Continente)/epidemiología , Femenino , Encuestas Epidemiológicas , Humanos , Masculino , Trastornos Migrañosos/complicacionesRESUMEN
PURPOSE: The National Committee for Hospital Preparedness for Conventional Mass Casualty Incidents and the Hospital Preparedness Division of the Home Front Command are in charge of preparing live exercises held yearly in public hospitals in Israel. Our experience is that live exercises are limited in their ability to test clinical decision making and its influence upon incident management. A live exercise was designed upon real patient data and tested in several public hospitals. The aim of the manuscript is to describe the impact of this new format on clinical decision making in large-scale live exercises. METHODS: A database of histories, physical examination findings, laboratory results and imaging results for 420 patients treated following terrorist explosions was created using information derived from actual patient encounters. Similar information for 100 patients treated following motor vehicle accidents was also collected. Information from the database was used to create victim profiles used during the course of exercises held in eight public hospitals with 60-800-bed capacities. RESULTS: Before implementing the new injury tags, no conclusions could be made concerning the quality of clinical decision making. Conducting the exercise using the new format helped identify deficiencies in the hospital disaster plan in triage, emergency department management and in the proper utilisation of resources such as radiology, operating rooms and the secondary transfer of patients. CONCLUSION: Previous knowledge of patient diagnoses and resource needs allow the identification and quantification of deficiencies and problems identified in clinical decision making, resource utilisation and incident management.
RESUMEN
BACKGROUND: Migraine imposes significant burden on patients, their families and health care systems. In this study, we compared episodic to chronic migraine sufferers to determine if migraine status predicted headache-related disability, health-related quality of life (HRQoL) and health care resource utilization. METHODS: A Web-based survey was administered to panelists from nine countries. Participants were classified as having chronic migraine (CM), episodic migraine (EM) or neither using a validated questionnaire. Data collected and then analyzed included sociodemographics, clinical characteristics, Migraine Disability Assessment, Migraine-Specific Quality of Life v2.1, Patient Health Questionnaire and health care resource utilization. FINDINGS: Of the respondents, 5.7% had CM and 94.3% had EM, with CM patients reporting significantly more severe disability, lower HRQoL, higher levels of anxiety and depression and greater health care resource utilization compared to those with EM. INTERPRETATION: These results provide evidence that will enhance our understanding of the factors driving health care costs and will contribute to development of cost-effective health care strategies.
Asunto(s)
Costo de Enfermedad , Evaluación de la Discapacidad , Trastornos Migrañosos/epidemiología , Calidad de Vida , Adulto , Enfermedad Crónica , Estudios Transversales , Recolección de Datos , Femenino , Recursos en Salud/estadística & datos numéricos , Humanos , Masculino , Trastornos Migrañosos/psicología , Sistemas en LíneaRESUMEN
Tuftelin is an acidic protein expressed at very early stages of mouse odontogenesis. It was suggested to play a role during epithelial-mesenchymal interactions, and later, when enamel formation commences, to be involved in enamel mineralization. Tuftelin was also detected in several normal soft tissues of different origins and some of their corresponding cancerous tissues. Tuftelin is expressed in low quantities, and undergoes degradation in the enamel extracellular matrix. To investigate the structure and function of tuftelin, the full length recombinant human tuftelin protein was produced. The full length human tuftelin cDNA was cloned using Gateway recombination into the Bac-to-Bac system compatible transfer vector pDest10. This vector adds a hexahistidine tag to the N-terminus of the expressed protein, enabling one-step affinity purification on nickel column. The recombinant human tuftelin protein was transposed into the bacmid and expressed in Spodoptera frugiperda (Sf9) insect cells. The yield of the purified, his-tagged recombinant full length human Tuftelin (rHTuft+) was 5-8 mg/L culture. rHTuft+ was characterized by SDS-PAGE, Western blot, ESI-TOF spectrometry, restriction mapping and MS/MS sequencing. The availability of the purified, full length recombinant human tuftelin protein opened up the possibility to investigate novel functions of tuftelin. Application of rHTuft+ agarose beads onto embryonic mouse mandibular explants caused changes in the surrounding epithelial cells, including morphology, orientation and spatial organization. Further studies using DiI labeling, revealed that rHTuft+, placed on the tooth germ region, brought about recruitment of adjacent embryonic mesenchymal cells. These findings support the hypothesis that tuftelin plays an important role during embryogenesis.
Asunto(s)
Baculoviridae/genética , Proteínas del Esmalte Dental/metabolismo , Proteínas Recombinantes/metabolismo , Spodoptera/metabolismo , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Células Cultivadas , Proteínas del Esmalte Dental/química , Proteínas del Esmalte Dental/genética , Proteínas del Esmalte Dental/farmacología , Femenino , Histocitoquímica , Humanos , Masculino , Mandíbula/efectos de los fármacos , Mandíbula/embriología , Mandíbula/crecimiento & desarrollo , Espectrometría de Masas , Ratones , Microesferas , Datos de Secuencia Molecular , Mapeo Peptídico , Fosforilación , Proteínas Recombinantes/química , Proteínas Recombinantes/genética , Proteínas Recombinantes/farmacología , Espectrometría de Masas en TándemRESUMEN
BACKGROUND: Human sperm DNA damage may adversely affect reproductive outcomes, and the spermatozoa of infertile men possess substantially more DNA damage than that of fertile men. To date, there is no available treatment for men with high levels of sperm DNA damage. The objective of this study was to examine the effect of varicocelectomy on sperm DNA denaturation (DD, an index of sperm DNA damage) in infertile men with a clinical varicocele. METHODS: We reviewed the reports of 37 men who underwent microsurgical varicocelectomy at our institution from September 2001 to July 2002. Standard semen parameters and the percentage of spermatozoa with DD (monitored by flow cytometry analysis of acridine orange-treated spermatozoa) were assessed before and 6 months after varicocelectomy. RESULTS: The percentage of spermatozoa with DD decreased following varicocelectomy compared with pre-operatively (27.7 versus 24.6%, respectively, P < 0.05). Sperm concentration and the percentages of motile sperm and normal forms (WHO criteria) increased following varicocelectomy, but the difference did not reach statistical significance. CONCLUSIONS: Our data suggest that varicocelectomy can improve human sperm DNA integrity in infertile men with varicocele. These data represent the first report of improved sperm DNA integrity after therapy and further support the beneficial effect of varicocelectomy on human spermatogenesis.
Asunto(s)
Daño del ADN , Infertilidad Masculina/cirugía , Microcirugia , Espermatozoides/fisiología , Varicocele/cirugía , Procedimientos Quirúrgicos Vasculares/métodos , Adulto , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Cordón Espermático/irrigación sanguínea , EspermatogénesisRESUMEN
Mediastinal masses in children are a heterogeneous group of asymptomatic or potentially life-threatening congenital, infectious, or neoplastic lesions that present complex diagnostic and therapeutic dilemmas. Some patients are asymptomatic; in others, the mass may compress mediastinal structures and cause sudden asphyxia. In these cases, close cooperation is needed among pediatric surgeons, anesthesiologists, intensivists, oncologists, and radiologists. The files of 45 children with mediastinal masses admitted between 1986 and 1999 to the Pediatric Intensive Care Unit (PICU) of Schneider Children's Medical Center of Israel were reviewed. Twenty-one were admitted for perioperative care, and 21 for emergency care, including 19 with respiratory distress. Five of the emergency care group had asphyxia and 10 needed assisted ventilation. Two children were admitted for evaluation and 1 for leukopheresis. The children admitted on an emergency basis had more clinical findings than the postoperative group: almost 80% had dyspnea and more than 45% had oxygen desaturation; 33% had cough and noisy breathing, and 25%, superior vena cava syndrome or hepatosplenomegaly. Eight patients (17.8%) had benign disease and 37 (82.2%) malignant disease. The patients with a benign mass were significantly younger than the patients with a malignant mass (p<0.005); in 5 cases (12.5%), a congenital anomaly presented as a mediastinal mass. Most of the malignant masses were of hematologic origin (40.5%), followed by neurogenic tumors (27%). Twenty-seven patients underwent surgery, including 6 emergency procedures (3 partial resections, 2 biopsies, 1 lymph node biopsy). There were no intraoperative or postoperative deaths. The present series emphasizes the complex care children with a mediastinal mass require. They should be treated in a tertiary center with a multidisciplinary approach.
Asunto(s)
Neoplasias del Mediastino , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Neoplasias del Mediastino/complicaciones , Neoplasias del Mediastino/diagnóstico , Neoplasias del Mediastino/terapiaRESUMEN
OBJECTIVE: To assess the efficacy and safety of modafinil for the treatment of fatigue in multiple sclerosis (MS). METHODS: Patients aged 18-65 years with a diagnosis of MS, a stable disability level < or =6 on the Kurtzke extended disability status scale (EDSS), and a mean score >4 on the fatigue severity scale (FSS) were eligible for the 9 week, single blind, phase 2, two centre study. Exclusion criteria included a diagnosis of narcolepsy, sleep apnoea, or clinically significant major systemic disease and recent use of medications affecting fatigue. All patients, who remained blinded for the treatment regimen, received placebo during weeks 1-2, 200 mg/day modafinil during weeks 3-4, 400 mg/day modafinil during weeks 5-6, and placebo during weeks 7-9. Safety was evaluated by unblinded investigators. Efficacy was evaluated by self rating scales, using the FSS, the modified fatigue impact scale (MFIS), a visual analogue scale for fatigue (VAS-F), and the Epworth sleepiness scale (ESS). Adverse events were recorded. RESULTS: Seventy two patients (MS type: 74% relapsing-remitting; 7% primary progressive; 19% secondary progressive) received treatment. After treatment with 200 mg/day modafinil for 2 weeks, a significant improvement in fatigue versus placebo run in was demonstrated. Mean scores after treatment with 200 mg/day modafinil were: FSS, 4.7 versus 5.5 for placebo (p<0.001); MFIS, 37.7 versus 44.7 (p<0.001); and VAS-F, 5.4 versus 4.5 (p=0.003). Fatigue scores for 400 mg/day modafinil were not significantly improved versus placebo run in. Mean ESS scores were significantly improved (p<0.001) with 200 mg/day modafinil (7.2) and 400 mg/day (7.0) versus the score at baseline (9.5). Serious adverse events were not found at either dose. The most common adverse events were headache, nausea, and aesthenia. Sixty five patients (90%) completed the study. CONCLUSIONS: These data suggest that 200 mg/day modafinil significantly improves fatigue and is well tolerated in patients with MS.
Asunto(s)
Compuestos de Bencidrilo/uso terapéutico , Fármacos del Sistema Nervioso Central/uso terapéutico , Fatiga/tratamiento farmacológico , Esclerosis Múltiple/tratamiento farmacológico , Adolescente , Adulto , Anciano , Compuestos de Bencidrilo/efectos adversos , Fármacos del Sistema Nervioso Central/efectos adversos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Modafinilo , Proyectos Piloto , Método Simple Ciego , Resultado del Tratamiento , Vigilia/efectos de los fármacosRESUMEN
BACKGROUND: The association between vitamin D receptor (VDR) gene polymorphisms and bone mineral density (BMD) is controversial, and may be effected by ethnic ancestry and age. AIMS: To determine the distribution of the BsmI VDR gene polymorphism in healthy Israeli populations, and to study its association with BMD in perimenopausal and osteoporotic Ashkenazi women. METHODS: Allele and genotype frequencies of the VDR gene defined by BsmI restriction site were determined in 634 healthy Israelis of seven ethnic groups, 90 Ashkenazi perimenopausal women and in 75 Ashkenazi osteoporotic women. Genotype-related differences in spinal and femoral neck BMD were determined in Ashkenazi perimenopausal women. Allele and genotype frequencies in Ashkenazi osteoporotic women were compared with Ashkenazi controls. RESULTS: The frequency of the BB genotype was higher in Yemenites compared with Ashkenazi and Libyan Jews (23, 11 and 8%, respectively, p < 0.05), and lower in Ashkenazi compared with Iraqi and Persian Jews (11, 20 and 21%, respectively, p = 0.05). BMD did not vary by genotype in perimenopausal women, nor were there differences in the frequencies of the B allele or the BB genotype in osteoporotic women compared with controls. CONCLUSIONS: There is ethnic variability in the frequency of the BsmI VDR gene polymorphism. In Ashkenazi perimenopausal and osteoporotic women this polymorphism is not associated with BMD.
Asunto(s)
Desoxirribonucleasas de Localización Especificada Tipo II/genética , Osteoporosis Posmenopáusica/genética , Polimorfismo Genético/genética , Premenopausia/genética , Grupos Raciales/genética , Receptores de Calcitriol/genética , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Densidad Ósea/genética , Femenino , Humanos , Israel , Judíos/genética , Persona de Mediana EdadRESUMEN
Familial dysautonomia (FD; also known as "Riley-Day syndrome"), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable autonomic dysfunction. Previously, we had mapped the FD gene, DYS, to a 0.5-cM region on chromosome 9q31 and had shown that the ethnic bias is due to a founder effect, with >99.5% of disease alleles sharing a common ancestral haplotype. To investigate the molecular basis of FD, we sequenced the minimal candidate region and cloned and characterized its five genes. One of these, IKBKAP, harbors two mutations that can cause FD. The major haplotype mutation is located in the donor splice site of intron 20. This mutation can result in skipping of exon 20 in the mRNA of patients with FD, although they continue to express varying levels of wild-type message in a tissue-specific manner. RNA isolated from lymphoblasts of patients is primarily wild-type, whereas only the deleted message is seen in RNA isolated from brain. The mutation associated with the minor haplotype in four patients is a missense (R696P) mutation in exon 19, which is predicted to disrupt a potential phosphorylation site. Our findings indicate that almost all cases of FD are caused by an unusual splice defect that displays tissue-specific expression; and they also provide the basis for rapid carrier screening in the Ashkenazi Jewish population.
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Empalme Alternativo , Cromosomas Humanos Par 9 , Disautonomía Familiar/genética , Mutación Missense , Proteínas Serina-Treonina Quinasas/genética , Sustitución de Aminoácidos , Encéfalo/metabolismo , Mapeo Cromosómico , Clonación Molecular , Exones , Marcadores Genéticos , Humanos , Quinasa I-kappa B , Linfocitos/fisiología , Datos de Secuencia Molecular , ARN/sangre , ARN/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Transcripción GenéticaRESUMEN
OBJECTIVES: The primary prevention of prostate cancer through nutritional modification is becoming a focus of attention as important relationships between diet and cancer are becoming evident. Relevant research is reviewed, along with recent data implicating various vitamin supplements and food products in the prevention and treatment of prostate cancer. METHODS: The epidemiology of prostate cancer, and current knowledge of prevention, screening, and progression of neoplasia is discussed. The current understanding of diet and its importance in primary and secondary prevention is explored. Literature searches were performed on MedLine using relevant keywords to find studies relating to prevention and treatment of prostate cancer using dietary methods. Of these, 104 published manuscripts were used. The search was limited from the year 1975 to the present. RESULTS: Incidence rates for prostate cancer vary according to diet and lifestyle. Several double-blind placebo-controlled clinical trials have shown that supplementation with selenium reduces cancer incidence. Inhibitory effects on the growth of in vitro prostate cancer cell lines have been observed with the administration of soy isoflavones, lycopenes from tomatoes, and vitamin D. Other compounds, such as calcium and fatty acids, have been linked to higher incidences of prostate cancer. CONCLUSIONS: Evidence exists that diet may play an important role in the primary prevention of prostate cancer. Further research is necessary to define the role that nutrition plays in the prevention or promotion of prostate cancer.
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Fenómenos Fisiológicos de la Nutrición , Neoplasias de la Próstata/prevención & control , Calcio de la Dieta , Carotenoides/administración & dosificación , Estrógenos no Esteroides , Ácidos Grasos/administración & dosificación , Humanos , Isoflavonas , Masculino , Fitoestrógenos , Preparaciones de Plantas , Plantas Comestibles , Selenio/administración & dosificación , Proteínas de Soja/administración & dosificación , Verduras , Vitamina D/administración & dosificación , Vitamina E/administración & dosificaciónRESUMEN
Bone disease is an important cause of morbidity in older patients with beta-thalassaemia major and intermedia. We studied 27 women and 23 men with beta-thalassaemia major (37) and intermedia (13) whose mean age was 32.3 +/- 9.7 years. Bone mineral density (BMD) of the lumbar spine, femoral neck and distal radius was determined by dual-energy X-ray absorbiometry (DXA). The longitudinal change in BMD over a mean of 5.6 years was determined in 19 patients. Serum 25-hydroxyvitamin D, insulin growth factor-1 (IGF-1), bone formation markers bone-alkaline phosphatase, osteocalcin and the resorption marker urinary N-telopeptide cross-linked type 1 collagen (NTx) were determined. The BsmI vitamin D receptor (VDR) gene polymorphism was analysed. Reduced BMD (Z-score < -2) was present in 89%, 62% and 73% of patients in the spine, hip and radius respectively. Vitamin D deficiency was found in 62%, decreased IGF-1 in 72% and increased urinary NTx in 84% of patients. Serum IGF-1 correlated with spine and hip BMD (r = 0.4, r = 0.39, P < 0.01 respectively), and NTx correlated with the hip BMD Z-score (r = 0.35 P < 0.05). The mean annual percentage change in spine BMD was -1.36%. Patients with the VDR BB genotype had lower spine BMD than patients with the bb genotype. In conclusion, bone loss continues in adult thalassaemia patients and is associated with increased bone resorption and decreased IGF-1. The BsmI VDR gene polymorphism is associated with osteopenia in thalassaemia.
Asunto(s)
Densidad Ósea , Huesos/metabolismo , Minerales/metabolismo , Talasemia beta/metabolismo , 25-Hidroxivitamina D 2/sangre , Adulto , Fosfatasa Alcalina/sangre , Biomarcadores/sangre , Biomarcadores/orina , Distribución de Chi-Cuadrado , Colágeno/orina , Colágeno Tipo I , Femenino , Cuello Femoral , Humanos , Factor I del Crecimiento Similar a la Insulina/análisis , Estudios Longitudinales , Vértebras Lumbares , Masculino , Persona de Mediana Edad , Osteocalcina/sangre , Péptidos/orina , Polimorfismo Genético , Radio (Anatomía) , Receptores de Calcitriol/genética , Deficiencia de Vitamina D/complicaciones , Talasemia beta/complicaciones , Talasemia beta/genéticaRESUMEN
Routine intraoperative rectal temperature monitoring may serve in addition as a means of distal intestinal patency confirmation. A simple method, which is of immense importance especially when operating on infants and small children after NEC or intestinal atresia, is described.
Asunto(s)
Temperatura Corporal , Obstrucción Intestinal/diagnóstico , Monitoreo Intraoperatorio , Termómetros , Humanos , Recién Nacido , Atresia Intestinal/diagnóstico , RectoRESUMEN
OBJECTIVE: To determine the association between the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and vascular dementia in Ashkenazi and non-Ashkenazi Jews. DESIGN: A case-control study. SETTING: Nursing homes in Jerusalem, Israel. PARTICIPANTS: Two hundred fifty nine Jewish people of Ashkenazi and non-Ashkenazi origin, older than age 70, who have vascular dementia (VD) (n = 85), Alzheimer's disease (AD) (n = 92), and who are cognitively intact (n = 82) with no clinical evidence of atherosclerotic vascular disease. MEASUREMENTS: The frequencies of the mutant allele (T allele) and homozygotes for the C677T MTHFR mutation (T/T genotype). The total plasma homocysteine (tHCT) level in 75 subjects. RESULTS: There were no significant differences in the frequencies of the T/T genotype or T allele among VD, AD, and cognitively intact older people of the same ethnic origin (0.15, 0.19, 0.25 T/T genotype and 0.42, 0.46, 0.47 T allele in Ashkenazi; 0.08, 0.06, 0.10 T/T genotype and 0.28, 0.32, 0.33 T allele in non-Ashkenazi with VD and AD, and in cognitively intact older people, respectively). The relative risk of VD associated with the T/T genotype versus the C/C genotype was 0.62 (95% CI, 0.19-1.19) in Ashkenazi and 0.65 (95% CI, 0.11-3.7) in non-Ashkenazi, respectively. The relative risk of AD associated with the T/T genotype was 0.85 (95% CI, 0.29-2.45) in Ashkenazi and 0.62 (95% CI, 0.1-4.3) in non-Ashkenazi, respectively. The frequencies of mutant homozygotes and allele were significantly higher in Ashkenazi than in non-Ashkenazi Jews (19.9% vs 7.5% T/T genotype, chi2 = 6.2, P = .01, 0.45 vs 0.31 T allele, chi2 = 9.77, P = .002 in Ashkenazi vs non-Ashkenazi, respectively). There were no differences in mean tHCT concentration among VD, AD, and cognitively intact older people. CONCLUSIONS: The MTHFR C677T is not associated with an increased risk of vascular dementia or Alzheimer's disease. The frequency of the mutation is significantly higher in Ashkenazi compared with non-Ashkenazi Jews.
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Demencia Vascular/etnología , Demencia Vascular/genética , Judíos/genética , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Polimorfismo Genético , Anciano , Anciano de 80 o más Años , Enfermedad de Alzheimer/etnología , Enfermedad de Alzheimer/genética , Análisis de Varianza , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Homocisteína/sangre , Humanos , Israel/epidemiología , Masculino , Metilenotetrahidrofolato Reductasa (NADPH2) , Oportunidad Relativa , Reacción en Cadena de la Polimerasa , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Multiple organ injury in children is an increasingly frequent phenomenon in the modern emergency room. Adrenal hemorrhage associated with this type of trauma has received little attention in the past. OBJECTIVES: Using computed tomography, we sought to determine the rate and nature of adrenal gland injury in children following blunt abdominal trauma due to motor vehicular accident. METHODS: A total of 121 children with blunt abdominal trauma were examined and total body CT was performed in cases of multi-organ trauma or severe neurological injury. RESULTS: Of all the children who presented with blunt abdominal trauma over a 51 month period, 6 (4.95%) had adrenal hemorrhage. In all cases only the right adrenal gland was affected. Coincidental injury to the chest and other abdominal organs was noted in 66.7% and 50% of patients, respectively. CONCLUSIONS: Traumatic adrenal injury in the pediatric population may be more common than previously suspected. Widespread application of the more sophisticated imaging modalities available today will improve the detection of damage to the smaller organs in major collision injuries and will help in directing attention to the mechanism of trauma.
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Traumatismos Abdominales/diagnóstico por imagen , Enfermedades de las Glándulas Suprarrenales/diagnóstico por imagen , Glándulas Suprarrenales/lesiones , Hemorragia/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Heridas no Penetrantes/diagnóstico por imagen , Traumatismos Abdominales/complicaciones , Accidentes de Tránsito , Enfermedades de las Glándulas Suprarrenales/epidemiología , Enfermedades de las Glándulas Suprarrenales/etiología , Glándulas Suprarrenales/diagnóstico por imagen , Niño , Preescolar , Femenino , Humanos , Israel/epidemiología , Masculino , Estudios Prospectivos , Heridas no Penetrantes/complicacionesRESUMEN
Hyperhomocysteinemia is an independent risk factor for arteriosclerotic vascular disease. It can result from deficiencies of co-factors required for homocysteine metabolism and/or from genetic disorders of its metabolism. The association between the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and vascular disease is controversial, and may be affected by ethnic origin. A unique feature of the Israeli population is its ethnic diversity. The aim of this study was to study the frequency of the C677T MTHFR mutation in healthy Israeli ethnic groups. The frequency of the mutation was determined in 897 young healthy Jewish and Muslim Arab Israelis of eight different ethnic groups. Marked ethnic differences in the frequency of mutant homozygotes were found, ranging from 2% in Yemenite Jews, 4% in Sephardic Jews, 9% in Oriental Jews, 10% in Muslim Arabs, 16% in North African Jews, and 19% in Ashkenazi Jews. The frequency of mutant homozygotes was significantly higher in Ashkenazi Jews compared to Yemenites Oriental Jews, Sephardic Jews, and Muslim Arabs (chi2 = 12.35p < 0.001, chi2 = 8.17p = 0.004, chi2 = 6.04p = 0.01, chi2 = 6.54 p = 0.01, respectively). Our findings demonstrate the need for matching ethnic background in patients and controls when studying the association between the C677T MTHFR mutation and any disease.
Asunto(s)
Árabes , Judíos , Mutación , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Adolescente , Adulto , Niño , Preescolar , Frecuencia de los Genes , Humanos , Lactante , Recién Nacido , Israel , Metilenotetrahidrofolato Reductasa (NADPH2)Asunto(s)
Química Encefálica/genética , Cromosomas Humanos Par 9/genética , Disautonomía Familiar/genética , Regulación del Desarrollo de la Expresión Génica , Proteínas del Tejido Nervioso/genética , Secuencia de Aminoácidos , Secuencia de Bases , Mapeo Cromosómico , Clonación Molecular , ADN/química , Cartilla de ADN/química , Humanos , Células Híbridas , Proteínas de la Membrana , Datos de Secuencia Molecular , Proteínas del Tejido Nervioso/química , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Secuencia de ADNRESUMEN
We evaluated the outcome of children with ovarian mass operated on at our Center over an 8-year period. Thirty-four girls aged 1 day to 17 years were included in the study. Mean duration of follow-up was 39.5 months. Eighteen had a nonneoplastic mass and 16 a neoplastic mass, eight of which were malignant. Patients with a malignant tumor underwent adnexectomy of the affected side and appendectomy, without removal of the uterus or the other ovary and without partial omentectomy; only the one girl with bilateral malignant disease had bilateral adnexectomy. Five of the eight patients with malignant disease received chemotherapy. All patients are alive with no evidence of disease. Pediatric ovarian masses are rare but have a relatively high rate of malignancy. They differ from adult malignant tumors in many aspects. Conservative surgery should be applied to preserve fertility and combined, if necessary, with aggressive chemotherapy. A good prognosis may be expected in most cases, even with progressive disease.
Asunto(s)
Neoplasias Ováricas/cirugía , Anexos Uterinos/cirugía , Adolescente , Adulto , Antineoplásicos/uso terapéutico , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Procedimientos Quirúrgicos Menores , Estadificación de Neoplasias , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/tratamiento farmacológico , Ovariectomía , Tomografía Computarizada por Rayos XRESUMEN
A novel human transcript CG-2 (C9ORF5), was isolated from the familial dysautonomia candidate region on 9q31 using a combination of cDNA selection and exon trapping. CG-2 was detected as a relatively abundant 8kb transcript in all adult and fetal tissues with the exception of adult thymus. Genomic analysis of CG-2 identified 18 exons that span more than 110kb. The gene encodes a 911-amino-acid protein with a predicted molecular weight of 101kDa and a hypothetical pI of 9.03. Sequence analysis of CG-2 indicates that it is likely to encode a transmembrane protein. Here, we assess CG-2 as a candidate for familial dysautonomia.